Incidental Mutation 'IGL01574:Klhdc7b'
| ID |
91197 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Klhdc7b
|
| Ensembl Gene |
ENSMUSG00000091680 |
| Gene Name |
kelch domain containing 7B |
| Synonyms |
EG546648 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.208)
|
| Stock # |
IGL01574
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
89269120-89273070 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89271572 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 818
(V818A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153286
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109314]
[ENSMUST00000166926]
[ENSMUST00000167959]
[ENSMUST00000225666]
|
| AlphaFold |
A0A286YD60 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109314
|
| SMART Domains |
Protein: ENSMUSP00000104937
Gene: ENSMUSG00000078938
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Synaptonemal_3
|
1 |
86 |
4e-45 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166926
AA Change: V160A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000130884
Gene: ENSMUSG00000091680
AA Change: V160A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
130 |
146 |
N/A |
INTRINSIC |
|
Kelch
|
366 |
416 |
1.04e-6 |
SMART |
|
Kelch
|
417 |
461 |
4.9e-3 |
SMART |
|
Kelch
|
462 |
504 |
4.18e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167959
|
| SMART Domains |
Protein: ENSMUSP00000131766
Gene: ENSMUSG00000078938
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Synaptonemal_3
|
1 |
85 |
6.6e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225666
AA Change: V818A
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd26 |
T |
G |
6: 118,516,659 (GRCm39) |
T502P |
probably damaging |
Het |
| Apoa4 |
C |
A |
9: 46,154,283 (GRCm39) |
Q295K |
probably benign |
Het |
| Asxl3 |
T |
G |
18: 22,656,621 (GRCm39) |
C1544G |
probably benign |
Het |
| Ccl7 |
G |
A |
11: 81,937,451 (GRCm39) |
V62I |
probably damaging |
Het |
| Ceacam20 |
C |
A |
7: 19,708,247 (GRCm39) |
T284K |
possibly damaging |
Het |
| Ces4a |
A |
T |
8: 105,871,859 (GRCm39) |
|
probably benign |
Het |
| Col4a2 |
G |
T |
8: 11,489,306 (GRCm39) |
G1147V |
probably damaging |
Het |
| Gtf3c4 |
T |
C |
2: 28,724,448 (GRCm39) |
D428G |
possibly damaging |
Het |
| Itgb2 |
G |
A |
10: 77,393,798 (GRCm39) |
V413I |
possibly damaging |
Het |
| Itgb7 |
T |
G |
15: 102,135,975 (GRCm39) |
E20A |
possibly damaging |
Het |
| Kank2 |
C |
A |
9: 21,705,900 (GRCm39) |
G373W |
probably damaging |
Het |
| Kif1a |
T |
A |
1: 93,010,062 (GRCm39) |
I28F |
probably damaging |
Het |
| Klhl20 |
T |
C |
1: 160,921,296 (GRCm39) |
Y53C |
probably damaging |
Het |
| Matcap2 |
T |
C |
9: 22,355,426 (GRCm39) |
V487A |
possibly damaging |
Het |
| Mroh1 |
A |
G |
15: 76,316,488 (GRCm39) |
N772S |
probably benign |
Het |
| Mtmr4 |
C |
T |
11: 87,491,473 (GRCm39) |
T146I |
probably benign |
Het |
| Nup210 |
C |
T |
6: 91,017,546 (GRCm39) |
V1152I |
probably benign |
Het |
| Pclo |
T |
A |
5: 14,763,462 (GRCm39) |
D3978E |
unknown |
Het |
| Pkd1l3 |
T |
C |
8: 110,350,403 (GRCm39) |
L416P |
probably benign |
Het |
| Pkn2 |
T |
C |
3: 142,544,992 (GRCm39) |
M161V |
possibly damaging |
Het |
| Plxnb2 |
T |
C |
15: 89,046,886 (GRCm39) |
|
probably null |
Het |
| Polr2e |
C |
A |
10: 79,875,467 (GRCm39) |
D3Y |
probably damaging |
Het |
| Prss27 |
A |
T |
17: 24,257,345 (GRCm39) |
|
probably benign |
Het |
| Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
| Tmem30c |
T |
A |
16: 57,097,105 (GRCm39) |
I152F |
possibly damaging |
Het |
| Usp2 |
G |
A |
9: 44,005,100 (GRCm39) |
R378H |
probably damaging |
Het |
| Vmn2r106 |
A |
T |
17: 20,488,572 (GRCm39) |
I609N |
possibly damaging |
Het |
| Vmn2r51 |
T |
A |
7: 9,836,381 (GRCm39) |
E133D |
probably damaging |
Het |
| Zkscan3 |
A |
T |
13: 21,578,261 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Klhdc7b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02711:Klhdc7b
|
APN |
15 |
89,272,246 (GRCm39) |
nonsense |
probably null |
|
|
R0115:Klhdc7b
|
UTSW |
15 |
89,272,724 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0718:Klhdc7b
|
UTSW |
15 |
89,272,372 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0729:Klhdc7b
|
UTSW |
15 |
89,271,598 (GRCm39) |
nonsense |
probably null |
|
|
R0971:Klhdc7b
|
UTSW |
15 |
89,271,257 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1794:Klhdc7b
|
UTSW |
15 |
89,271,223 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1815:Klhdc7b
|
UTSW |
15 |
89,271,800 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1893:Klhdc7b
|
UTSW |
15 |
89,271,898 (GRCm39) |
splice site |
probably null |
|
|
R3508:Klhdc7b
|
UTSW |
15 |
89,271,095 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
R3552:Klhdc7b
|
UTSW |
15 |
89,271,724 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4001:Klhdc7b
|
UTSW |
15 |
89,272,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4618:Klhdc7b
|
UTSW |
15 |
89,271,472 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4727:Klhdc7b
|
UTSW |
15 |
89,271,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5129:Klhdc7b
|
UTSW |
15 |
89,272,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5549:Klhdc7b
|
UTSW |
15 |
89,271,562 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5643:Klhdc7b
|
UTSW |
15 |
89,271,862 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5778:Klhdc7b
|
UTSW |
15 |
89,271,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5906:Klhdc7b
|
UTSW |
15 |
89,271,359 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5942:Klhdc7b
|
UTSW |
15 |
89,271,634 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6020:Klhdc7b
|
UTSW |
15 |
89,272,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6653:Klhdc7b
|
UTSW |
15 |
89,271,292 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6810:Klhdc7b
|
UTSW |
15 |
89,272,559 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7399:Klhdc7b
|
UTSW |
15 |
89,272,847 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7548:Klhdc7b
|
UTSW |
15 |
89,272,907 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7640:Klhdc7b
|
UTSW |
15 |
89,271,463 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8461:Klhdc7b
|
UTSW |
15 |
89,271,824 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8712:Klhdc7b
|
UTSW |
15 |
89,271,025 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8890:Klhdc7b
|
UTSW |
15 |
89,272,888 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9497:Klhdc7b
|
UTSW |
15 |
89,272,463 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9785:Klhdc7b
|
UTSW |
15 |
89,272,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-09 |
Incidental Mutation